Familial isolated primary hyperparathyroidism caused by mutations of the MEN1 gene

Primary hyperparathyroidism is hereditary in 10% of patients. This article describes a patient with familial isolated hyperparathyroidism (FIHP) caused by a novel MEN1 missense mutation. The genetics, differential diagnosis and management of hereditary hyperparathyroidism are illustrated. Background Familial isolated primary hyperparathyroidism (FIHP) is an autosomal dominant disorder that can represent an early stage of either the multiple...